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Identification of a novel UMOD mutation (c.163G>A) in a Brazilian ...
Frontiers | Case Report: UMOD gene mutation and phenotypic overlap with ...
Mutation in UMOD gene. (a) Sequence of an affected individual; the site ...
A mutation analysis was carried out on a healthy volunteer. UMOD gene ...
(A) The patient carried a heterozygous mutation in the UMOD gene c.280T ...
| Screening for UMOD and HNF1B mutation at Necker Hospital in probands ...
(PDF) Identification of a novel UMOD mutation (c.163G>A) in a Brazilian ...
Figure 1 from A Novel UMOD Mutation (c.187T>C) in a Korean Family with ...
Figure 1 from A Novel Mutation of UMOD in a Chinese Family with IgA ...
(PDF) Prevalence of UMOD Gene Mutation among Saudi Patients with Kidney ...
(PDF) Characterization of a Recurrent In-frame UMOD Indel Mutation ...
Renal biopsy of a patient with mutation in the UMOD gene. (A ...
(PDF) A novel homozygous UMOD mutation reveals gene dosage effects on ...
Genetic and biochemical investigation of the p.C120Y UMOD mutation. (A ...
Mutations in the UMOD gene. The upper sequence shows the wild-type (WT ...
Mutations of the UMOD gene are responsible for medullary cystic kidney ...
UMOD Mutations in Chronic Kidney Disease in Taiwan
Mutations in UMOD . The top sequence in each panel shows wild type ...
| Spectrum of mutations in UMOD and MUC1. (a) UMOD gene and protein ...
| UMOD mutations detected in indicated families and polymerase chain ...
Mutations in UMOD Contribute to the Pathogenesis of ADTKD‐UMOD by ...
Example of family with UMOD gene mutation. The index case marked with ...
Umod
(PDF) Recurrent UMOD Mutations in Australian Families with Autosomal ...
Overall Structure of Human UMOD Filaments | Download Scientific Diagram
A Novel Pattern of Mutation in Uromodulin Disorders: Autosomal Dominant ...
An intermediate-effect size variant in UMOD confers risk for chronic ...
Recurrent UMOD Mutations in Australian Families with Autosomal Dominant ...
Autophagy enhancement degrades accumulated mutant UMOD in primary human ...
| Representation of UMOD gene and uromodulin protein and radiological ...
(PDF) UMOD gene mutations in Chinese patients with autosomal dominant ...
UMOD gene: exon 4 sequence showing heterozygosity and homozygosity for ...
Schematic representation of exons 2 –8 of UMOD illustrating the ...
UMOD and you! Explaining a rare disease diagnosis | Journal of Rare ...
Analysis of Umod gene sequence in wild-type and mutant mice. A ...
Genomic sequence variation at UMOD variant rs4293393. Schematic ...
Mild kidney disease phenotype and intermediate UMOD trafficking defect ...
UMOD and you! Explaining a rare disease diagnosis - PMC
Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a ...
UMOD expression amplifies UUO-associated interstitial inflammation ...
Proposed Mechanism of UMOD Polymerization | Download Scientific Diagram
A Cluster of Mutations in the UMOD Gene Causes Familial Juvenile ...
UMOD mutations reported in the literature. | Download Table
UMOD gene mutations in Chinese patients with autosomal dominant ...
Immunohistochemical analysis of UMOD and MUC1 in kidney biopsies. In ...
UMOD mutations in FJHN families and patients | Download Table
Structure of the UMOD gene and localization of the variants identified ...
Effect of Polymerization Interface Mutations on UMOD Filament ...
Characteristics of UMOD variants in CKD individuals. | Download ...
Clinical and genetic spectra of autosomal dominant tubulointerstitial ...
PPT - Chronic Kidney Disease PowerPoint Presentation, free download ...
Allelic effects on uromodulin aggregates drive autosomal dominant ...
Uromodulin (UMOD) gene analysis in the patient and his father. (A ...
Schematic diagram of CHOP promoting renal interstitial fibrosis in ...
Clinical information and treatment of the patient. | Download ...
Genetic and Clinical Predictors of Age of ESKD in Individuals With ...
Clinical, genetic and biochemical characteristics of the family members ...
Figure 3 from Autosomal Dominant Tubulointerstitial Kidney Disease Due ...
Figure 2 from Autosomal Dominant Tubulointerstitial Kidney Disease Due ...
(PDF) Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis ...
(PDF) ADTKD-UMOD in a girl with a de novo mutation: A case report
Figure 1 from Autosomal Dominant Tubulointerstitial Kidney Disease Due ...
Uromodulin processing in DNAJB11-kidney disease - Kidney International
Uromodulin modulates mitochondria and kidney tubule resilience - PMC
(PDF) The diagnostic value of uromodulin protein measurement in ...
Uromoduline — Wikipédia
(PDF) Clinical and Genetic Spectra of Autosomal Dominant ...
Pedigrees for 8 families with uromodulin (UMOD) variants. Pedigrees for ...
Fig. S3. Sequence alignment of UMOD-like ZP module-containing proteins ...
Uromodulin regulates renal magnesium homeostasis through the ion ...
Pedigree of the ADTKD-UMOD family. | Download Scientific Diagram
Autosomal Dominant Tubulointerstitial Kidney Disease—UMOD: Case Report ...
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical ...
UMOD-related autosomal dominant tubulointerstitial kidney disease: an ...
Genomics and Precision Medicine for Clinicians and Scientists in ...
- MedCrave online
CHOP is specifically expressed in UMOD-producing tubular cells of ...
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review ...
polycystic Kidney Disease well explained. | PPTX
Immunohistochemical detection of uromodulin (UMOD, a-d), POU3F3 (e-l ...
(PDF) i>UMOD Mutations in Chronic Kidney Disease in Taiwan
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and ...
The diagnostic value of uromodulin protein measurement in autosomal ...
Significance of kidney biopsy in autosomal dominant tubulointerstitial ...
Early involvement of cellular stress and inflammatory signals in the ...
| Structural models of wild-type (WT) and indel uromodulin isoforms ...
Endoplasmic reticulum stress as a driver and therapeutic target for ...
Activation of STING signaling, increased inflammation and apoptosis in ...
Loss of MANF in TALs deteriorates autophagy suppression and kidney ...
